CIC基因新发突变致常染色体显性遗传智力障碍45型1例
One case of mental retardation autosomal dominant 45 caused by a new mutation of capicua(CIC)gene
赵树红 1张永峰 2岳保珠 3彭敏4
作者信息
- 1. 山东第二医科大学附属医院,山东潍坊 261000;山东第二医科大学,山东潍坊 261000
- 2. 山东第二医科大学附属医院,山东潍坊 261000
- 3. 潍坊市妇幼保健院,山东潍坊 261000
- 4. 北京智因东方转化医学研究中心有限公司,北京 100023
- 折叠
摘要
目的 探讨CIC基因新发突变致常染色体显性遗传智力障碍45型(MRD45)患儿的临床表型及基因型特征.方法 回顾性分析1例因发育迟缓就诊,经基因检测诊断为CIC基因新发突变致常染色体显性遗传障碍45型患儿的临床资料和基因结果.结果 患儿以言语发育迟缓、智力发育落后以及癫痫发作为临床表现,全外显子组测序(WES)分析提示在CIC基因存在新发错义变异(NM_001304815.2)c.326A＞G(p.Lys109Arg),基因功能预测该变异具有致病性,患儿确诊为CIC基因相关智力发育障碍45型.结论 发现一处未报道的CIC基因变异位点,为中国首例报道的患儿,扩展了智力障碍45型基因变异谱.
Abstract
Objective To investigate the clinical phenotype and genotype of children with mental retardation auto-somal dominant 45(MRD45)caused by new mutation of CIC gene.Methods The clinical data and gene results of a patient with mental retardation autosomal dominant 45(MRD45)caused by new mutation of CIC gene diagnosed by gene testing were analyzed retrospectively.Results The children had language retardation,intellectual developmental retardation and epilepsy.Whole exome sequencing(WES)showed the existence of c.326A＞G(p.Lys109Arg)frameshift mutation in CIC gene,which was predicted to be pathogenic by gene function,and the child was diagnosed with mental retardation autosomal dominant 45.Conclusion An unreported CIC gene mutation site was found,which is the first reported Chinese child,expanding the mental retardation autosomal dominant 45 gene mutation spectrum.
关键词
常染色体显性遗传智力障碍45型/CIC基因/癫痫/全外显子组测序Key words
mental retardation autosomal dominant 45/CIC gene/epilepsy/whole exome sequencing引用本文复制引用
出版年
2024
NETL
NSTL
万方数据